PMID- 17014624 OWN - NLM STAT- MEDLINE DCOM- 20070201 LR - 20221207 IS - 0905-6157 (Print) IS - 0905-6157 (Linking) VI - 17 IP - 7 DP - 2006 Nov TI - Genetic association study between mbl2 and asthma phenotypes in Chinese children. PG - 501-7 AB - Mannose-binding lectin (MBL), a member of the innate immune system, initiates complement deposition on microbial surfaces. MBL deficiency is associated with severe respiratory infections. Polymorphisms in the MBL gene (mbl2) were associated with the susceptibility and severity of autoimmune diseases. This study investigated whether mbl2 polymorphisms at positions -550 and -221 and at codon-54 are associated with asthma phenotypes in Chinese children. Asthmatics aged 5-18 yr and non-allergic controls were eligible, and their plasma total and allergen-specific immunoglobulin E (IgE) concentrations were measured by micro-particle immunoassay and fluorescent enzyme immunoassay. mbl2 polymorphisms were genotyped by restriction fragment length polymorphism. Three hundred and seventeen asthmatic children and 140 controls were recruited, with their mean (s.d.) log-transformed plasma total IgE being 2.61 (0.61) and 1.77 (0.77), respectively (p < 0.0001). Polymorphisms at -550 and codon-54 (p < 0.0001 for both) but not at -221 (p = 0.534) of mbl2 were significantly associated with plasma MBL concentrations. mbl2 genotypes were not associated with asthma, atopy, sensitization to individual aeroallergens or spirometric variable. Subjects with LYB haplotype had the lowest plasma MBL concentrations (p < 0.0001), but two- and three-loci mbl2 haplotypes were also not associated with asthma diagnosis. However, patients with LY and LYB haplotypes were less likely to be atopic (p = 0.006 and 0.031). Subjects with LY and LYA were also less likely to be sensitized to cockroach (p = 0.035 and 0.047). The latter three associations became insignificant when adjusted for multiple comparisons. Despite the importance of MBL in innate immunity, our mbl2 polymorphisms only show weak association with asthma and atopy in children. FAU - Leung, Ting Fan AU - Leung TF AD - Department of Paediatrics, The Chinese Univesity of Hong Kong, Prince of Wales Hospital, Hong Kong. tfleung@cuhk.edu.hk FAU - Tang, Nelson L S AU - Tang NL FAU - Sung, Ying Man AU - Sung YM FAU - Li, Chung Yi AU - Li CY FAU - Ma, Suk Ling AU - Ma SL FAU - Lam, Christopher W K AU - Lam CW FAU - Wong, Gary W K AU - Wong GW LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Pediatr Allergy Immunol JT - Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology JID - 9106718 RN - 0 (Allergens) RN - 0 (MBL2 protein, human) RN - 0 (Mannose-Binding Lectin) RN - 37341-29-0 (Immunoglobulin E) SB - IM MH - Adolescent MH - Allergens/immunology MH - Asian People/*genetics MH - Asthma/blood/*genetics MH - Child MH - Child, Preschool MH - Female MH - Haplotypes MH - Humans MH - Immunoglobulin E/blood/immunology MH - Male MH - Mannose-Binding Lectin/blood/*genetics MH - Phenotype MH - Polymorphism, Restriction Fragment Length MH - Polymorphism, Single Nucleotide EDAT- 2006/10/04 09:00 MHDA- 2007/02/03 09:00 CRDT- 2006/10/04 09:00 PHST- 2006/10/04 09:00 [pubmed] PHST- 2007/02/03 09:00 [medline] PHST- 2006/10/04 09:00 [entrez] AID - PAI446 [pii] AID - 10.1111/j.1399-3038.2006.00446.x [doi] PST - ppublish SO - Pediatr Allergy Immunol. 2006 Nov;17(7):501-7. doi: 10.1111/j.1399-3038.2006.00446.x.